GM23681

GM23681 LCL from B-Lymphocyte

Description:

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-2; COL6A2

Affected:

Yes

Sex:

Male

Age:

16 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific

Class

Congenital Muscle Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; walked at 14 months; holds head up, turns in bed, sits, stands, and walks (indoors and out) without assistance; can climb stairs with a handrail; unable to rise from floor at age 15 years old; generalized weakness (proximal > distal); toriticollis; undescended testes (orchiplexy); Goldenhaur syndrome; contractures (finger flexors, elbows, hips, knees, ankles); distal laxity in fingers; hyperkeratosis pilaris; restrictive lung disease; cardiac assessment notes narrow pulmonary valve treated in past with balloon stenting; creatine phosphokinase = 550; muscle biopsy noted to have dystrophic appearance; MRI of muscle showed diffuse fatty infiltration in the gluteal region; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 901 in exon 8 of the COL6A2 gene (901G>A) resulting in a substitution of serine for glycine at codon 301 [Gly301Ser (G301S)]; and the second allele has a C>T transition at nucleotide 1552 in exon 19 (1552C>T) resulting in the substitution of serine for proline at codon 518 [Pro518Ser (P518S)].